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Artigo de periodico
GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report (2019)
Almeida, Daniela Palheiro Mendes de; Andrade, Francianne Gomes; Borges, Gustavo; Bueno, Filipe V. dos Santos; Vieira, Iracema F.; Rocha, Luana Kelly M. da S. da; Mendes-da-Cruz, Daniella A.; Zancopé-Oliveira, Rosely M.; Calado, Rodrigo Tocantins ; Pombo-de-Oliveira, Maria Socorro
Fonte: BMC Medical Genetics. Unidade: FMRP
Assuntos: MICOBACTERIOSE, MUTAÇÃO
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ABNT
ALMEIDA, Daniela Palheiro Mendes de et al. GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report. BMC Medical Genetics, v. 20, 2019Tradução . . Disponível em: https://doi.org/10.1186/s12881-019-0799-6. Acesso em: 02 dez. 2025.
APA
Almeida, D. P. M. de, Andrade, F. G., Borges, G., Bueno, F. V. dos S., Vieira, I. F., Rocha, L. K. M. da S. da, et al. (2019). GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report. BMC Medical Genetics, 20. doi:10.1186/s12881-019-0799-6
NLM
Almeida DPM de, Andrade FG, Borges G, Bueno FV dos S, Vieira IF, Rocha LKM da S da, Mendes-da-Cruz DA, Zancopé-Oliveira RM, Calado RT, Pombo-de-Oliveira MS. GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report [Internet]. BMC Medical Genetics. 2019 ; 20[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/s12881-019-0799-6
Vancouver
Almeida DPM de, Andrade FG, Borges G, Bueno FV dos S, Vieira IF, Rocha LKM da S da, Mendes-da-Cruz DA, Zancopé-Oliveira RM, Calado RT, Pombo-de-Oliveira MS. GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report [Internet]. BMC Medical Genetics. 2019 ; 20[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/s12881-019-0799-6
Artigo de periodico
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects (2018)
Nonose, Renata Watanabe; Lezirovitz, Karina; Auricchio, Maria Teresa Balester De Mello; Batissoco, Ana Carla; Yamamoto, Guilherme Lopes; Mingroni Netto, Regina Celia
Fonte: BMC Medical Genetics. Unidade: IB
Assuntos: SURDEZ, HEREDITARIEDADE, MUTAÇÃO GENÉTICA, PERDA AUDITIVA BILATERAL, PACIENTES
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NONOSE, Renata Watanabe et al. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects. BMC Medical Genetics, v. 19, p. 1-10, 2018Tradução . . Disponível em: https://doi.org/10.1186/s12881-018-0585-x. Acesso em: 02 dez. 2025.
APA
Nonose, R. W., Lezirovitz, K., Auricchio, M. T. B. D. M., Batissoco, A. C., Yamamoto, G. L., & Mingroni Netto, R. C. (2018). Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects. BMC Medical Genetics, 19, 1-10. doi:10.1186/s12881-018-0585-x
NLM
Nonose RW, Lezirovitz K, Auricchio MTBDM, Batissoco AC, Yamamoto GL, Mingroni Netto RC. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects [Internet]. BMC Medical Genetics. 2018 ; 19 1-10.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/s12881-018-0585-x
Vancouver
Nonose RW, Lezirovitz K, Auricchio MTBDM, Batissoco AC, Yamamoto GL, Mingroni Netto RC. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects [Internet]. BMC Medical Genetics. 2018 ; 19 1-10.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/s12881-018-0585-x
Artigo de periodico
A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella) (2017)
Vasconcelos, Felipe Tadeu Galante Rocha de ; Hauzman, Einat ; Henriques, Leonardo Dutra ; Goulart, Paulo Roney Kilpp ; Galvão, Olavo de Faria ; Sano, Ronaldo Yuiti; Souza, Givago da Silva ; Alfaro, Jessica W. Lynch; Silveira, L; Ventura, Dora Selma Fix ; Bonci, Daniela Maria Oliveira
Fonte: BMC Medical Genetics. Unidade: IP
Assuntos: ALBINISMO ANIMAL, MACACOS
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VASCONCELOS, Felipe Tadeu Galante Rocha de et al. A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella). BMC Medical Genetics, v. 18, n. 1, p. 1-6, 2017Tradução . . Disponível em: https://doi.org/10.1186/s12863-017-0504-8. Acesso em: 02 dez. 2025.
APA
Vasconcelos, F. T. G. R. de, Hauzman, E., Henriques, L. D., Goulart, P. R. K., Galvão, O. de F., Sano, R. Y., et al. (2017). A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella). BMC Medical Genetics, 18( 1), 1-6. doi:10.1186/s12863-017-0504-8
NLM
Vasconcelos FTGR de, Hauzman E, Henriques LD, Goulart PRK, Galvão O de F, Sano RY, Souza G da S, Alfaro JWL, Silveira L, Ventura DSF, Bonci DMO. A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella) [Internet]. BMC Medical Genetics. 2017 ; 18( 1): 1-6.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/s12863-017-0504-8
Vancouver
Vasconcelos FTGR de, Hauzman E, Henriques LD, Goulart PRK, Galvão O de F, Sano RY, Souza G da S, Alfaro JWL, Silveira L, Ventura DSF, Bonci DMO. A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella) [Internet]. BMC Medical Genetics. 2017 ; 18( 1): 1-6.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/s12863-017-0504-8
Artigo de periodico
Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome (2016)
Kaneto, Carla M.; Lima, Patrícia S. P.; Zanette, Dalila Luciola; Oliveira, Thiago Yukio Kikuchi; Pereira, Francisco de Assis; Lorenzi, Júlio César Cetrulo; Santos, Jane Lima dos; Prata, Karen L.; Pina Neto, João Monteiro de; Paula, Francisco José Albuquerque de; Silva Júnior, Wilson Araújo da
Fonte: BMC Medical Genetics. Unidade: FMRP
Assuntos: OSTEOGÊNESE IMPERFEITA, MEDULA ÓSSEA, CÉLULAS ESTROMAIS, EXPRESSÃO GÊNICA
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KANETO, Carla M. et al. Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome. BMC Medical Genetics, v. 17, 2016Tradução . . Disponível em: https://doi.org/10.1186/s12881-016-0301-7. Acesso em: 02 dez. 2025.
APA
Kaneto, C. M., Lima, P. S. P., Zanette, D. L., Oliveira, T. Y. K., Pereira, F. de A., Lorenzi, J. C. C., et al. (2016). Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome. BMC Medical Genetics, 17. doi:10.1186/s12881-016-0301-7
NLM
Kaneto CM, Lima PSP, Zanette DL, Oliveira TYK, Pereira F de A, Lorenzi JCC, Santos JL dos, Prata KL, Pina Neto JM de, Paula FJA de, Silva Júnior WA da. Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome [Internet]. BMC Medical Genetics. 2016 ; 17[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/s12881-016-0301-7
Vancouver
Kaneto CM, Lima PSP, Zanette DL, Oliveira TYK, Pereira F de A, Lorenzi JCC, Santos JL dos, Prata KL, Pina Neto JM de, Paula FJA de, Silva Júnior WA da. Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome [Internet]. BMC Medical Genetics. 2016 ; 17[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/s12881-016-0301-7
Artigo de periodico
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations (2016)
Garcia, Daniel F.; Camelo Júnior, José Simon; Molfetta, Greice Andreotti de; Turcato, Marlene; Souza, Carolina F. M.; Porta, Gilda; Steiner, Carlos E.; Silva Júnior, Wilson Araújo da
Fonte: BMC Medical Genetics. Unidade: FMRP
Assuntos: ERROS INATOS DO METABOLISMO, NEONATOLOGIA, MUTAÇÃO GENÉTICA, FATORES DE RISCO
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GARCIA, Daniel F. et al. Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations. BMC Medical Genetics, v. 17, 2016Tradução . . Disponível em: https://doi.org/10.1186/s12881-016-0300-8. Acesso em: 02 dez. 2025.
APA
Garcia, D. F., Camelo Júnior, J. S., Molfetta, G. A. de, Turcato, M., Souza, C. F. M., Porta, G., et al. (2016). Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations. BMC Medical Genetics, 17. doi:10.1186/s12881-016-0300-8
NLM
Garcia DF, Camelo Júnior JS, Molfetta GA de, Turcato M, Souza CFM, Porta G, Steiner CE, Silva Júnior WA da. Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations [Internet]. BMC Medical Genetics. 2016 ; 17[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/s12881-016-0300-8
Vancouver
Garcia DF, Camelo Júnior JS, Molfetta GA de, Turcato M, Souza CFM, Porta G, Steiner CE, Silva Júnior WA da. Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations [Internet]. BMC Medical Genetics. 2016 ; 17[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/s12881-016-0300-8
Artigo de periodico
A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome (2014)
Ueda, Yasutaka; Calado, Rodrigo Tocantins; Norberg, Anna; Kajigaya, Sachiko; Ross, Göran; Hellstrom-Lindberg, Eva; Young, Neal S
Fonte: BMC Medical Genetics. Unidade: FMRP
Assuntos: DOENÇAS HEMATOLÓGICAS (GENÉTICA), PROTEÍNAS NUCLEARES (METABOLISMO), NUCLEOTÍDEOS
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ABNT
UEDA, Yasutaka et al. A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome. BMC Medical Genetics, v. 15, 2014Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-15-68. Acesso em: 02 dez. 2025.
APA
Ueda, Y., Calado, R. T., Norberg, A., Kajigaya, S., Ross, G., Hellstrom-Lindberg, E., & Young, N. S. (2014). A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome. BMC Medical Genetics, 15. doi:10.1186/1471-2350-15-68
NLM
Ueda Y, Calado RT, Norberg A, Kajigaya S, Ross G, Hellstrom-Lindberg E, Young NS. A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome [Internet]. BMC Medical Genetics. 2014 ; 15[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-15-68
Vancouver
Ueda Y, Calado RT, Norberg A, Kajigaya S, Ross G, Hellstrom-Lindberg E, Young NS. A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome [Internet]. BMC Medical Genetics. 2014 ; 15[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-15-68
Artigo de periodico
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients (2014)
Silva, Felipe C; Lisboa, Bianca C. G; Figueiredo, Marcia C. P; Torrezan, Giovana T; Santos, Érika M. M; Krepischi, Ana Cristina Victorino ; Rossi, Benedito M; Achatz, Maria I; Carraro, Dirce M
Fonte: BMC Medical Genetics. Unidade: IB
Assuntos: MUTAÇÃO GENÉTICA, NEOPLASIAS MAMÁRIAS, NEOPLASIAS OVARIANAS, DOENÇAS HEREDITÁRIAS
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SILVA, Felipe C et al. Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC Medical Genetics, v. 15 art. 55, p. on-line, 2014Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-15-55. Acesso em: 02 dez. 2025.
APA
Silva, F. C., Lisboa, B. C. G., Figueiredo, M. C. P., Torrezan, G. T., Santos, É. M. M., Krepischi, A. C. V., et al. (2014). Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC Medical Genetics, 15 art. 55, on-line. doi:10.1186/1471-2350-15-55
NLM
Silva FC, Lisboa BCG, Figueiredo MCP, Torrezan GT, Santos ÉMM, Krepischi ACV, Rossi BM, Achatz MI, Carraro DM. Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients [Internet]. BMC Medical Genetics. 2014 ; 15 art. 55 on-line.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-15-55
Vancouver
Silva FC, Lisboa BCG, Figueiredo MCP, Torrezan GT, Santos ÉMM, Krepischi ACV, Rossi BM, Achatz MI, Carraro DM. Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients [Internet]. BMC Medical Genetics. 2014 ; 15 art. 55 on-line.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-15-55
Artigo de periodico
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia (2013)
Fonseca, Ana Carolina S; Bonaldi, Adriano; Bertola, Débora R; Kim, Chong A; Otto, Paulo A ; Vianna-Morgante, Angela M
Fonte: BMC Medical Genetics. Unidade: IB
Assuntos: DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA, GENÉTICA MÉDICA
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ABNT
FONSECA, Ana Carolina S et al. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Medical Genetics, v. 14, n. 50, p. 1-10 (on-line), 2013Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-14-50. Acesso em: 02 dez. 2025.
APA
Fonseca, A. C. S., Bonaldi, A., Bertola, D. R., Kim, C. A., Otto, P. A., & Vianna-Morgante, A. M. (2013). The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Medical Genetics, 14( 50), 1-10 (on-line). doi:10.1186/1471-2350-14-50
NLM
Fonseca ACS, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia [Internet]. BMC Medical Genetics. 2013 ; 14( 50): 1-10 (on-line).[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-14-50
Vancouver
Fonseca ACS, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia [Internet]. BMC Medical Genetics. 2013 ; 14( 50): 1-10 (on-line).[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-14-50
Artigo de periodico
1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes (2012)
Molfetta, Greice Andreotti de; Ferreira, Cristiane Ayres; Vidal, Daniel Onofre; Giuliani, Liane de Rosso; Maldonado, Maria José; Silva Júnior, Wilson Araújo da
Fonte: BMC Medical Genetics. Unidade: FMRP
Assuntos: SÍNDROME DE ANGELMAN, IMPRINTING (GENÉTICA), FENÓTIPOS, ANÁLISE DE SEQUÊNCIA DE DNA
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MOLFETTA, Greice Andreotti de et al. 1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes. BMC Medical Genetics, v. 13, 2012Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-13-124. Acesso em: 02 dez. 2025.
APA
Molfetta, G. A. de, Ferreira, C. A., Vidal, D. O., Giuliani, L. de R., Maldonado, M. J., & Silva Júnior, W. A. da. (2012). 1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes. BMC Medical Genetics, 13. doi:10.1186/1471-2350-13-124
NLM
Molfetta GA de, Ferreira CA, Vidal DO, Giuliani L de R, Maldonado MJ, Silva Júnior WA da. 1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes [Internet]. BMC Medical Genetics. 2012 ; 13[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-13-124
Vancouver
Molfetta GA de, Ferreira CA, Vidal DO, Giuliani L de R, Maldonado MJ, Silva Júnior WA da. 1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes [Internet]. BMC Medical Genetics. 2012 ; 13[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-13-124
Artigo de periodico
Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study (2012)
Horimoto, Andréa R. V. R.; Oliveira, Camila M.; Giolo, Suely R.; Soler, Júlia Maria Pavan ; Andrade, Mariza de; Krieger, José E.; Pereira , Alexandre C.
Fonte: BMC Medical Genetics. Unidades: IME, FM
Assuntos: TABAGISMO (EFEITOS ADVERSOS;GENÉTICA), INFLUÊNCIA SOCIAIS, TABAGISMO (PREVENÇÃO E CONTROLE), FUMO (EFEITOS ADVERSOS), CARDIOPATIAS (MORTALIDADE), FENÓTIPOS, BIOESTATÍSTICA
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HORIMOTO, Andréa R. V. R. et al. Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study. BMC Medical Genetics, v. 13, n. 19, p. 1-8, 2012Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-13-9. Acesso em: 02 dez. 2025.
APA
Horimoto, A. R. V. R., Oliveira, C. M., Giolo, S. R., Soler, J. M. P., Andrade, M. de, Krieger, J. E., & Pereira , A. C. (2012). Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study. BMC Medical Genetics, 13( 19), 1-8. doi:10.1186/1471-2350-13-9
NLM
Horimoto ARVR, Oliveira CM, Giolo SR, Soler JMP, Andrade M de, Krieger JE, Pereira AC. Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study [Internet]. BMC Medical Genetics. 2012 ; 13( 19): 1-8.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-13-9
Vancouver
Horimoto ARVR, Oliveira CM, Giolo SR, Soler JMP, Andrade M de, Krieger JE, Pereira AC. Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study [Internet]. BMC Medical Genetics. 2012 ; 13( 19): 1-8.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-13-9
Artigo de periodico
Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study (2012)
Morimoto, Andréa R.V. R; Oliveira, Camila M; Giolo, Suely R; Soler, Júlia Maria Pavan ; Andrade, Mariza de; Krieger, José E; Pereira, Alexandre C
Fonte: BMC Medical Genetics. Unidade: IME
Assunto: GENÉTICA
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ABNT
MORIMOTO, Andréa R.V. R et al. Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study. BMC Medical Genetics, v. 13:9, 2012Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-13-9. Acesso em: 02 dez. 2025.
APA
Morimoto, A. R. V. R., Oliveira, C. M., Giolo, S. R., Soler, J. M. P., Andrade, M. de, Krieger, J. E., & Pereira, A. C. (2012). Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study. BMC Medical Genetics, 13:9. doi:10.1186/1471-2350-13-9
NLM
Morimoto ARVR, Oliveira CM, Giolo SR, Soler JMP, Andrade M de, Krieger JE, Pereira AC. Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study [Internet]. BMC Medical Genetics. 2012 ; 13:9[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-13-9
Vancouver
Morimoto ARVR, Oliveira CM, Giolo SR, Soler JMP, Andrade M de, Krieger JE, Pereira AC. Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study [Internet]. BMC Medical Genetics. 2012 ; 13:9[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-13-9
Artigo de periodico
Association of genetic variants in the promoter region of genes encoding p22phox (CYBA) and glutamate cysteine ligase catalytic subunit (GCLC) and renal disease in patients with type 1 diabetes mellitus (2011)
Vieira, Suzana M.; Monteiro, Maria B.; Marques, Tatiana; Luna, Ana M.; Fortes, Maria A.; Nery, Márcia; Queiroz, Márcia; Dib, Sérgio A.; Vendramini, Márcio F.; Azevedo, Mirela J.; Canani, Luis H.; Parisi, Maria C.; Pavin, Elizabeth J.; Giannella-Neto, Daniel; Corrêa-Giannella, Maria L.
Fonte: BMC Medical Genetics. Unidade: FM
Assuntos: VARIAÇÃO GENÉTICA, GENES (ANÁLISE), NEFROPATIAS (FISIOPATOLOGIA), DIABETES MELLITUS, NEFROPATIAS (GENÉTICA), GENÓTIPOS, ESTRESSE OXIDATIVO
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ABNT
VIEIRA, Suzana M. et al. Association of genetic variants in the promoter region of genes encoding p22phox (CYBA) and glutamate cysteine ligase catalytic subunit (GCLC) and renal disease in patients with type 1 diabetes mellitus. BMC Medical Genetics, v. 12, n. 129, p. 1-6, 2011Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-12-129. Acesso em: 02 dez. 2025.
APA
Vieira, S. M., Monteiro, M. B., Marques, T., Luna, A. M., Fortes, M. A., Nery, M., et al. (2011). Association of genetic variants in the promoter region of genes encoding p22phox (CYBA) and glutamate cysteine ligase catalytic subunit (GCLC) and renal disease in patients with type 1 diabetes mellitus. BMC Medical Genetics, 12( 129), 1-6. doi:10.1186/1471-2350-12-129
NLM
Vieira SM, Monteiro MB, Marques T, Luna AM, Fortes MA, Nery M, Queiroz M, Dib SA, Vendramini MF, Azevedo MJ, Canani LH, Parisi MC, Pavin EJ, Giannella-Neto D, Corrêa-Giannella ML. Association of genetic variants in the promoter region of genes encoding p22phox (CYBA) and glutamate cysteine ligase catalytic subunit (GCLC) and renal disease in patients with type 1 diabetes mellitus [Internet]. BMC Medical Genetics. 2011 ; 12( 129): 1-6.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-12-129
Vancouver
Vieira SM, Monteiro MB, Marques T, Luna AM, Fortes MA, Nery M, Queiroz M, Dib SA, Vendramini MF, Azevedo MJ, Canani LH, Parisi MC, Pavin EJ, Giannella-Neto D, Corrêa-Giannella ML. Association of genetic variants in the promoter region of genes encoding p22phox (CYBA) and glutamate cysteine ligase catalytic subunit (GCLC) and renal disease in patients with type 1 diabetes mellitus [Internet]. BMC Medical Genetics. 2011 ; 12( 129): 1-6.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-12-129
Artigo de periodico
Heritability of physical activity traits in Brazilian families: the Baependi Heart Study (2011)
Horimoto, Andréa R. V. R.; Giolo, Suely R.; Oliveira, Camila M.; Alvim, Rafael O.; Soler, Júlia Maria Pavan ; Andrade, Mariza de; Krieger, José E.; Pereira, Alexandre C.
Fonte: BMC Medical Genetics. Unidades: FM, IME
Assuntos: ATIVIDADE FÍSICA, FENÓTIPOS, MEIO AMBIENTE (INFLUÊNCIAS), DOENÇAS GENÉTICAS, FAMÍLIA, QUESTIONÁRIOS, BRASIL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
HORIMOTO, Andréa R. V. R. et al. Heritability of physical activity traits in Brazilian families: the Baependi Heart Study. BMC Medical Genetics, v. 12, n. 155, p. 1-9, 2011Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-12-155. Acesso em: 02 dez. 2025.
APA
Horimoto, A. R. V. R., Giolo, S. R., Oliveira, C. M., Alvim, R. O., Soler, J. M. P., Andrade, M. de, et al. (2011). Heritability of physical activity traits in Brazilian families: the Baependi Heart Study. BMC Medical Genetics, 12( 155), 1-9. doi:10.1186/1471-2350-12-155
NLM
Horimoto ARVR, Giolo SR, Oliveira CM, Alvim RO, Soler JMP, Andrade M de, Krieger JE, Pereira AC. Heritability of physical activity traits in Brazilian families: the Baependi Heart Study [Internet]. BMC Medical Genetics. 2011 ; 12( 155): 1-9.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-12-155
Vancouver
Horimoto ARVR, Giolo SR, Oliveira CM, Alvim RO, Soler JMP, Andrade M de, Krieger JE, Pereira AC. Heritability of physical activity traits in Brazilian families: the Baependi Heart Study [Internet]. BMC Medical Genetics. 2011 ; 12( 155): 1-9.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-12-155
Artigo de periodico
CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population (2011)
Santos, Paulo C. J. L.; Soares, Renata A. G.; Santos, Diogo B. G.; Krieger, José E.; Nicolau, José C.; Nascimento, Raimundo M.; Coelho, George L. L. M.; Mill, José G.; Pereira, Alexandre C.
Fonte: BMC Medical Genetics. Unidade: FM
Assuntos: POLIMORFISMO, GRUPOS ÉTNICOS, FENÓTIPOS, POPULAÇÃO, BRASIL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SANTOS, Paulo C. J. L. et al. CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population. BMC Medical Genetics, v. 12, n. 13, p. (online), 2011Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-12-13. Acesso em: 02 dez. 2025.
APA
Santos, P. C. J. L., Soares, R. A. G., Santos, D. B. G., Krieger, J. E., Nicolau, J. C., Nascimento, R. M., et al. (2011). CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population. BMC Medical Genetics, 12( 13), (online). doi:10.1186/1471-2350-12-13
NLM
Santos PCJL, Soares RAG, Santos DBG, Krieger JE, Nicolau JC, Nascimento RM, Coelho GLLM, Mill JG, Pereira AC. CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population [Internet]. BMC Medical Genetics. 2011 ; 12( 13): (online).[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-12-13
Vancouver
Santos PCJL, Soares RAG, Santos DBG, Krieger JE, Nicolau JC, Nascimento RM, Coelho GLLM, Mill JG, Pereira AC. CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population [Internet]. BMC Medical Genetics. 2011 ; 12( 13): (online).[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-12-13
Artigo de periodico
The C242T polymorphism of the p22-phox gene (CYBA) is associated with higher left ventricular mass in Brazilian hypertensive patients (2011)
Schreiber, Roberto; Ferreira-Sae, Maria C.; Ronchi, Juliana A.; Pio-Magalhães, José A.; Cipolli, José A.; Matos-Souza, José R.; Mill, José G.; Vercesi, Aníbal E.; Krieger, José E.; Franchini, Kleber G.; Pereira, Alexandre C.; Nadruz Junior, Wilson
Fonte: BMC Medical Genetics. Unidade: FM
Assuntos: POLIMORFISMO, HIPERTENSÃO (GENÉTICA), VENTRÍCULO CARDÍACO, GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SCHREIBER, Roberto et al. The C242T polymorphism of the p22-phox gene (CYBA) is associated with higher left ventricular mass in Brazilian hypertensive patients. BMC Medical Genetics, v. 12, n. 114, p. 1-6, 2011Tradução . . Disponível em: http://www.biomedcentral.com/content/pdf/1471-2350-12-114.pdf. Acesso em: 02 dez. 2025.
APA
Schreiber, R., Ferreira-Sae, M. C., Ronchi, J. A., Pio-Magalhães, J. A., Cipolli, J. A., Matos-Souza, J. R., et al. (2011). The C242T polymorphism of the p22-phox gene (CYBA) is associated with higher left ventricular mass in Brazilian hypertensive patients. BMC Medical Genetics, 12( 114), 1-6. doi:10.1186/1471-2350-12-114
NLM
Schreiber R, Ferreira-Sae MC, Ronchi JA, Pio-Magalhães JA, Cipolli JA, Matos-Souza JR, Mill JG, Vercesi AE, Krieger JE, Franchini KG, Pereira AC, Nadruz Junior W. The C242T polymorphism of the p22-phox gene (CYBA) is associated with higher left ventricular mass in Brazilian hypertensive patients [Internet]. BMC Medical Genetics. 2011 ; 12( 114): 1-6.[citado 2025 dez. 02 ] Available from: http://www.biomedcentral.com/content/pdf/1471-2350-12-114.pdf
Vancouver
Schreiber R, Ferreira-Sae MC, Ronchi JA, Pio-Magalhães JA, Cipolli JA, Matos-Souza JR, Mill JG, Vercesi AE, Krieger JE, Franchini KG, Pereira AC, Nadruz Junior W. The C242T polymorphism of the p22-phox gene (CYBA) is associated with higher left ventricular mass in Brazilian hypertensive patients [Internet]. BMC Medical Genetics. 2011 ; 12( 114): 1-6.[citado 2025 dez. 02 ] Available from: http://www.biomedcentral.com/content/pdf/1471-2350-12-114.pdf
Artigo de periodico
SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group (2011)
Santos, Paulo C. J. L.; Soares, Renata A. G.; Nascimento, Raimundo M.; Machado-Coelho, George L. L.; Mill, José G.; Krieger, José E.; Pereira, Alexandre C.
Fonte: BMC Medical Genetics. Unidade: FM
Assuntos: POLIMORFISMO, ZONA URBANA, ÁREAS CENTRAIS, GENÓTIPOS, GRUPOS ÉTNICOS, MIOPATIAS CONGÊNITAS ESTRUTURAIS (GENÉTICA)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SANTOS, Paulo C. J. L. et al. SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group. BMC Medical Genetics, v. 12, n. 136, p. 1-6, 2011Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-12-136. Acesso em: 02 dez. 2025.
APA
Santos, P. C. J. L., Soares, R. A. G., Nascimento, R. M., Machado-Coelho, G. L. L., Mill, J. G., Krieger, J. E., & Pereira, A. C. (2011). SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group. BMC Medical Genetics, 12( 136), 1-6. doi:10.1186/1471-2350-12-136
NLM
Santos PCJL, Soares RAG, Nascimento RM, Machado-Coelho GLL, Mill JG, Krieger JE, Pereira AC. SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group [Internet]. BMC Medical Genetics. 2011 ; 12( 136): 1-6.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-12-136
Vancouver
Santos PCJL, Soares RAG, Nascimento RM, Machado-Coelho GLL, Mill JG, Krieger JE, Pereira AC. SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group [Internet]. BMC Medical Genetics. 2011 ; 12( 136): 1-6.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-12-136
Artigo de periodico
Evaluating gene by sex and age interactions on cardiovascular risk factors in Brazilian families (2010)
Giolo, Suely R.; Pereira, Alxandre C.; Andrade, Mariza de; Krieger, José E.; Soler, Júlia Maria Pavan
Fonte: BMC Medical Genetics. Unidades: FM, IME
Assuntos: GENES (AVALIÇÃO), SEXO, IDADE, FATORES DE RISCO, FARMÁCIA, DOENÇAS CARDIOVASCULARES (GENÉTICA), BRASIL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GIOLO, Suely R. et al. Evaluating gene by sex and age interactions on cardiovascular risk factors in Brazilian families. BMC Medical Genetics, v. 11, n. 132, p. (online), 2010Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-11-132. Acesso em: 02 dez. 2025.
APA
Giolo, S. R., Pereira, A. C., Andrade, M. de, Krieger, J. E., & Soler, J. M. P. (2010). Evaluating gene by sex and age interactions on cardiovascular risk factors in Brazilian families. BMC Medical Genetics, 11( 132), (online). doi:10.1186/1471-2350-11-132
NLM
Giolo SR, Pereira AC, Andrade M de, Krieger JE, Soler JMP. Evaluating gene by sex and age interactions on cardiovascular risk factors in Brazilian families [Internet]. BMC Medical Genetics. 2010 ; 11( 132): (online).[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-11-132
Vancouver
Giolo SR, Pereira AC, Andrade M de, Krieger JE, Soler JMP. Evaluating gene by sex and age interactions on cardiovascular risk factors in Brazilian families [Internet]. BMC Medical Genetics. 2010 ; 11( 132): (online).[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-11-132
Artigo de periodico
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0 (2010)
Soggia, Ana Priscila; Correa-Giannella, Maria Lúcia; Fortes, Maria Angela Henriques; Luna, Ana Mercedes Cavaleiro; Pereira, Maria Adelaide Albergaria
Fonte: BMC Medical Genetics. Unidade: FM
Assuntos: GLICOGENOSE, MUTAÇÃO GENÉTICA (ENZIMOLOGIA), CRIANÇAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SOGGIA, Ana Priscila et al. A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. BMC Medical Genetics, v. 11, n. 3, p. 1-5, 2010Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-11-3. Acesso em: 02 dez. 2025.
APA
Soggia, A. P., Correa-Giannella, M. L., Fortes, M. A. H., Luna, A. M. C., & Pereira, M. A. A. (2010). A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. BMC Medical Genetics, 11( 3), 1-5. doi:10.1186/1471-2350-11-3
NLM
Soggia AP, Correa-Giannella ML, Fortes MAH, Luna AMC, Pereira MAA. A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0 [Internet]. BMC Medical Genetics. 2010 ; 11( 3): 1-5.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-11-3
Vancouver
Soggia AP, Correa-Giannella ML, Fortes MAH, Luna AMC, Pereira MAA. A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0 [Internet]. BMC Medical Genetics. 2010 ; 11( 3): 1-5.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-11-3
Artigo de periodico
Nuclear Factor (NF) κB polymorphism is associated with heart function in patients with heart failure (2010)
Santos, Diogo G. B.; Resende, Marina F.; Mansur, Alfredo J.; Krieger, José E.; Pereira, Alexandre C.
Fonte: BMC Medical Genetics. Unidade: FM
Assuntos: NÚCLEO CELULAR, POLIMORFISMO, CORAÇÃO (FISIOLOGIA;FISIOPATOLOGIA), INSUFICIÊNCIA CARDÍACA (FISIOPATOLOGIA)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SANTOS, Diogo G. B. et al. Nuclear Factor (NF) κB polymorphism is associated with heart function in patients with heart failure. BMC Medical Genetics, v. 11, n. 89, p. 1-8, 2010Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-11-89. Acesso em: 02 dez. 2025.
APA
Santos, D. G. B., Resende, M. F., Mansur, A. J., Krieger, J. E., & Pereira, A. C. (2010). Nuclear Factor (NF) κB polymorphism is associated with heart function in patients with heart failure. BMC Medical Genetics, 11( 89), 1-8. doi:10.1186/1471-2350-11-89
NLM
Santos DGB, Resende MF, Mansur AJ, Krieger JE, Pereira AC. Nuclear Factor (NF) κB polymorphism is associated with heart function in patients with heart failure [Internet]. BMC Medical Genetics. 2010 ; 11( 89): 1-8.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-11-89
Vancouver
Santos DGB, Resende MF, Mansur AJ, Krieger JE, Pereira AC. Nuclear Factor (NF) κB polymorphism is associated with heart function in patients with heart failure [Internet]. BMC Medical Genetics. 2010 ; 11( 89): 1-8.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-11-89
Artigo de periodico
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients (2009)
Masotti, Cibele; Ornelas, Camila Camanzano; Splendore-Gordonos, Alessandra; Moura, Ricardo; Felix, Temis Maria; Alonso, Nivaldo; Camargo, Anamaria Aranha; Passos-Bueno, Maria Rita
Fonte: BMC Medical Genetics. Unidade: IB
Assunto: DISOSTOSE MANDIBULOFACIAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MASOTTI, Cibele et al. Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients. BMC Medical Genetics, v. 10, p. 136-142, 2009Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-10-136. Acesso em: 02 dez. 2025.
APA
Masotti, C., Ornelas, C. C., Splendore-Gordonos, A., Moura, R., Felix, T. M., Alonso, N., et al. (2009). Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients. BMC Medical Genetics, 10, 136-142. doi:10.1186/1471-2350-10-136
NLM
Masotti C, Ornelas CC, Splendore-Gordonos A, Moura R, Felix TM, Alonso N, Camargo AA, Passos-Bueno MR. Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients [Internet]. BMC Medical Genetics. 2009 ; 10 136-142.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-10-136
Vancouver
Masotti C, Ornelas CC, Splendore-Gordonos A, Moura R, Felix TM, Alonso N, Camargo AA, Passos-Bueno MR. Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients [Internet]. BMC Medical Genetics. 2009 ; 10 136-142.[citado 2025 dez. 02 ] Available from: https://doi.org/10.1186/1471-2350-10-136

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